Introduction: We aimed to determine the prospective association of smoking status, smoking intensity, and smoking cessation with the risk of hearing loss in a large Japanese cohort. Methods: The cohort study included 50195 employees, who were aged 20-64 years and free of hearing loss at baseline. Participants were followed up for a maximum of 8 years. Pure-tone audiometric testing was performed annually to identify hearing loss at 1 and 4 kHz. Cox proportional hazards regression models were used to investigate the association between smoking and hearing loss...

BACKGROUND AND PURPOSE: The 22q11.2 deletion syndrome is characterized by a heterogenic phenotype, including hearing loss. The underlying cause of hearing loss, especially sensorineural hearing loss, is not yet clear. Therefore, our objective was to describe anatomic malformations in the middle and inner ear in patients with 22q11.2 deletion syndrome. MATERIALS AND METHODS: A retrospective case series was conducted in 2 tertiary referral centers. All patients with 22q11...

BACKGROUND AND PURPOSE: Cochlear malformations may be be subtle on imaging studies. The purpose of this study was to evaluate the angle and depth of the lateral second interscalar ridge or notch in ears without sensorineural hearing loss (normal ears) and compare them with ears that have a documented incomplete type II partition malformation. MATERIALS AND METHODS: The second interscalar ridge notch angle and depth were measured on MR imaging in normal ears by a single experienced neuroradiologist...

Objectives The objective of this systematic review was to compare otoacoustic emissions (OAE) with audiometry in their effectiveness to monitor effects of long-term noise exposure on hearing. Methods We conducted a systematic search of MEDLINE, Embase and the non-MEDLINE subset of PubMed up to March 2016 to identify longitudinal studies on effects of noise exposure on hearing as determined by both audiometry and OAE. Results This review comprised 13 articles, with 30-350 subjects in the longitudinal analysis...

OBJECTIVE: To determine the prevalence and spectrum of Connexin 26 (GJB2) mutations in pre-lingual non-syndromic hearing loss (NSHL) patients in authors' centre and to review the data of Indian patients from the literature. METHODS: Sanger sequencing of entire coding region contained in single exon (Exon 2) of GJB2 gene in 15 patients of NSHL. RESULTS: GJB2 mutations were found in 40% (6/15) of NSHL patients, out of which mono-allelic were 33...

Hearing loss may place a heavy burden on the patient and patient's family. Given the high incidence of hearing loss among newborns and the huge cost of treatment and care (including cochlear implantation), prenatal diagnosis is strongly recommended. Termination of the fetus may be considered as an extreme outcome to the discovery of a potential deaf fetus, and therefore preimplantation genetic diagnosis has become an important option for avoiding the birth of affected children without facing the risk of abortion following prenatal diagnosis...

OBJECTIVE: To investigate social exclusion, mental health and demographic characteristics as risk and protective factors of suicidal ideation among adults with hearing loss. . METHODS: This analytical, cross-sectional study was conducted in Lahore, Pakistan, from June 2016 to January 2017, and comprised people with hearing loss. Multistage proportionate stratified sampling procedure was used. Mental Health Inventory, Social Exclusion Scale and Suicidal Ideation Attributes Scale were administered to the participants...

Heterozygous mutations in MECOM (MDS1 and EVI1 complex locus) have been reported to be causative of a rare association of congenital amegakaryocytic thrombocytopenia and radioulnar synostosis. Here we report on 12 patients with congenital hypomegakaryocytic thrombocytopenia caused by MECOM mutations (including 10 novel mutations). The mutations affected different functional domains of the EVI1 protein. The spectrum of phenotypes was much broader than initially reported for the first 3 patients; we found familial as well as sporadic cases, and the clinical spectrum ranged from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormality...

OBJECTIVES: Neutral lipid storage disease with myopathy (NLSDM) is a rare metabolic myopathy occurring owing to mutations in the patatin like phospholipase domain containing 2 (PNPLA2) gene. Till date, less than 50 patients with PNPLA2 mutations have been reported. In this study, we describe the clinical, pathological, and genetic findings, and muscle magnetic resonance imaging (MRI) changes in four Chinese patients with NLSDM. PATIENTS AND METHODS: Peripheral blood smears were stained using Wright's stain...

BACKGROUND: The purpose of this study was to investigate the association between isolated serous otitis media (SOM) and/or conductive hearing loss (CHL) and nasopharyngeal carcinoma (NPC) in a low-to-intermediate endemic area. METHODS: Medical records of all adult patients (≥17 years) with SOM/CHL who underwent endoscopic-guided nasopharyngeal biopsy to exclude NPC during a 10-year period were reviewed. Statistical analyses were conducted to identify significant predictors for NPC...

BACKGROUND: In the cochlea, auditory development depends on precise patterns of innervation by afferent and efferent nerve fibers, as well as a stereotyped arrangement of hair and supporting cells. NrCAM is a homophilic cell adhesion molecule that controls diverse aspects of nervous system development, but the function of NrCAM in cochlear development is not well understood. RESULTS: Throughout cochlear innervation, NrCAM is detectable on spiral ganglion neuron (SGN) afferent and olivocochlear efferent fibers, and on the membranes of developing hair and supporting cells...

Transmembrane proteins that mediate the cellular uptake or efflux of thyroid hormone potentially provide a key level of control over neurodevelopment. In humans, defects in one such protein, solute carrier SLC16A2 (MCT8) are associated with psychomotor retardation. Other proteins that transport the active form of thyroid hormone triiodothyronine (T3) or its precursor thyroxine (T4) have been identified in vitro but the wider significance of such transporters in vivo is unclear. The development of the auditory system requires thyroid hormone and the cochlea is a primary target tissue...

BACKGROUND: Geriatric syndromes are rarely detected in family medicine. Within the AGE program (active geriatric evaluation), a brief assessment tool (BAT) designed for family physicians (FP) was developed and its diagnostic performance estimated by comparison to a comprehensive geriatric assessment. METHODS: This prospective diagnostic study was conducted in four primary care sites in Switzerland. Participants were aged at least 70 years and attending a routine appointment with their physician, without previous documented geriatric assessment...

In this paper, we present a wearable smart system to help visually impaired persons (VIPs) walk by themselves through the streets, navigate in public places, and seek assistance. The main components of the system are a microcontroller board, various sensors, cellular communication and GPS modules, and a solar panel. The system employs a set of sensors to track the path and alert the user of obstacles in front of them. The user is alerted by a sound emitted through a buzzer and by vibrations on the wrist, which is helpful when the user has hearing loss or is in a noisy environment...

We report on a patient with inherited macrothrombocytopenia, MYH9 related disease (MYH9-RD). The patient was wrongly diagnosed and repeatedly treated for immune thrombocytopenia (ITP) for nearly 50 years. Cases of misdiagnosed MYH9-RD and other hereditary thrombocytopenias have been described previously. Typical clinical features such as renal failure and/or progressive loss of hearing should give grounds to suspect hereditary thrombocytopenia. Initial laboratory diagnosis can start with a simple blood smear followed by immunohistochemistry and genotyping...

OBJECTIVE: To investigate the impact of the wearing position of an off-the-ear-processor (OTE) on speech perception in quiet and noise. PATIENTS: The study group consisted of 16 adult subjects with bilateral severe-to-profound sensorineural hearing loss, 2 of them unilaterally, and 14 bilaterally provided with cochlear implants. MAIN OUTCOME MEASURES: Speech perception in quiet and noise was measured for frontal presentation with the recipients behind-the-ear processor CP810 or CP910 and the OTE processor Kanso (Cochlear Limited, Sydney, Australia)...

Our auditory environment is constantly changing and evolving over time, requiring us to rapidly adapt to a complex dynamic sensory input. This adaptive ability of our auditory system can be observed at different levels, from individual cell responses to complex neural mechanisms and behavior, and is essential to achieve successful speech communication, correct orientation in our full environment, and eventually survival. These adaptive processes may differ in individuals with hearing loss, whose auditory system may cope via "readapting" itself over a longer time scale to the changes in sensory input induced by hearing impairment and the compensation provided by hearing devices...

Hearing loss changes the auditory brain, sometimes maladaptively. When deprived of cochlear input, central auditory neurons become more active spontaneously and begin to respond more strongly and synchronously to better preserved sound frequencies. This spontaneous and sound-evoked central hyperactivity has been postulated to trigger tinnitus and hyperacusis, respectively. Localized hyperactivity has also been observed after long-term exposure to noise levels that do not damage the cochlea. Adult animals exposed to bands of nondamaging noise exhibited suppressed spontaneous and sound-evoked activity in the area of primary auditory cortex (A1) stimulated by the exposure band but had increased spontaneous and evoked activity in neighboring A1 areas...